Collins JS - Search Results

1

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.

Jackson PB, Boccuto L, Skinner C, Collins JS, Neri G, Gurrieri F, Schwartz CE. Jackson PB, et al. Among authors: collins js. Autism Res. 2009 Aug;2(4):232-6. doi: 10.1002/aur.87. Autism Res. 2009. PMID: 19681062

2

The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation.

Maghirang-Rodriguez R, Archie JG, Schwartz CE, Collins JS. Maghirang-Rodriguez R, et al. Among authors: collins js. Am J Med Genet A. 2009 Feb 15;149A(4):622-5. doi: 10.1002/ajmg.a.32721. Am J Med Genet A. 2009. PMID: 19267414

3

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE. Boccuto L, et al. Among authors: collins js. Eur J Hum Genet. 2013 Mar;21(3):310-6. doi: 10.1038/ejhg.2012.175. Epub 2012 Aug 15. Eur J Hum Genet. 2013. PMID: 22892527 Free PMC article.

4

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS. Sarasua SM, et al. Among authors: collins js. J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7. J Med Genet. 2011. PMID: 21984749

5

Fragile X syndrome detection in newborns-pilot study.

Saul RA, Friez M, Eaves K, Stapleton GA, Collins JS, Schwartz CE, Stevenson RE. Saul RA, et al. Among authors: collins js. Genet Med. 2008 Oct;10(10):714-9. doi: 10.1097/GIM.0b013e3181862a76. Genet Med. 2008. PMID: 18813135 Free article.

6

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.

Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS, Rogers RC, Phelan K, DuPont BR. Sarasua SM, et al. Among authors: collins js. Genet Med. 2014 Apr;16(4):318-28. doi: 10.1038/gim.2013.144. Epub 2013 Oct 17. Genet Med. 2014. PMID: 24136618 Free article.

7

Detecting polymorphisms and mutations in candidate genes.

Collins JS, Schwartz CE. Collins JS, et al. Am J Hum Genet. 2002 Nov;71(5):1251-2. doi: 10.1086/344344. Am J Hum Genet. 2002. PMID: 12452182 Free PMC article. No abstract available.

8

Cognitive function in Coffin-Lowry syndrome.

Simensen RJ, Abidi F, Collins JS, Schwartz CE, Stevenson RE. Simensen RJ, et al. Among authors: collins js. Clin Genet. 2002 Apr;61(4):299-304. doi: 10.1034/j.1399-0004.2002.610410.x. Clin Genet. 2002. PMID: 12030896

9

Short-term memory deficits in carrier females with KDM5C mutations.

Simensen RJ, Rogers RC, Collins JS, Abidi F, Schwartz CE, Stevenson RE. Simensen RJ, et al. Among authors: collins js. Genet Couns. 2012;23(1):31-40. Genet Couns. 2012. PMID: 22611640

10

The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project.

Collins JS, Schroer RJ, Bird J, Michaelis RC. Collins JS, et al. J Autism Dev Disord. 2003 Jun;33(3):343-8. doi: 10.1023/a:1024414803151. J Autism Dev Disord. 2003. PMID: 12908836

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